Genotypic spectrum and phenotype correlations of ABCA4-associated disease in patients of south Asian descent.
about
Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients.Localization and functional characterization of the p.Asn965Ser (N965S) ABCA4 variant in mice reveal pathogenic mechanisms underlying Stargardt macular degeneration.Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease.
P2860
Genotypic spectrum and phenotype correlations of ABCA4-associated disease in patients of south Asian descent.
description
2017 nî lūn-bûn
@nan
2017年の論文
@ja
2017年論文
@yue
2017年論文
@zh-hant
2017年論文
@zh-hk
2017年論文
@zh-mo
2017年論文
@zh-tw
2017年论文
@wuu
2017年论文
@zh
2017年论文
@zh-cn
name
Genotypic spectrum and phenoty ...... tients of south Asian descent.
@en
type
label
Genotypic spectrum and phenoty ...... tients of south Asian descent.
@en
prefLabel
Genotypic spectrum and phenoty ...... tients of south Asian descent.
@en
P2093
P2860
P356
P1476
Genotypic spectrum and phenoty ...... tients of south Asian descent.
@en
P2093
Frederick T Collison
Gerald A Fishman
Jana Zernant
Janet R Sparrow
Kaspar Schuerch
Rando Allikmets
Srilaxmi Bearelly
Stephen H Tsang
Winston Lee
P2860
P2888
P304
P356
10.1038/EJHG.2017.13
P577
2017-03-22T00:00:00Z
P6179
1084127981